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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830182878
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214903
ClinVar RCV Id:
RCV000198713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Met340Val
CA323246
NM_130835.2:c.1018A>G